gastric adenocarcinoma and proximal polyposis of the stomach
Findings
No curated finding names gastric adenocarcinoma and proximal polyposis of the stomach yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant disorder caused by specific pathogenic variants in the APC gene promoter, characterized by proximal gastric polyposis and an increased risk of gastric adenocarcinoma.
Definition from the Mondo Disease Ontology (MONDO:0017790), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Fundic gland polyposisHPOHP:0033769
- 32 of 32 reported patients
- Gastric adenocarcinomaHPOHP:0033770
- 17 of 32 reported patients
- Abdominal painHPOHP:0002027
- 2 of 5 reported patients
- MelenaHPOHP:0002249
- 1 of 5 reported patients
- Multiple gastric polypsMondoHP:0004394
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- APCHGNC:583
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: gastric adenocarcinoma and proximal polyposis of the stomach
- Also called
- APC-related gastric adenocarcinoma and proximal polyposis of the stomachfamilial fundic gland polyposis with gastric cancerfundic gland polyposisGAPPSpolyposis of gastric fundus without polyposis colipolyposis, gastricpolyposis, gastric, Dos Santos and de Magalhaes 1980